E60D (p.Glu60Asp) variant of RLBP1 (Retinaldehyde-binding protein 1)
E60D (p.Glu60Asp) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- rs191170653
- ClinGen CA7722365
- ClinVar RCV001062313
- 1000Genomes rs191170653
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.15
- CADD 3.63
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available